New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndrome

Introduction: The IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endocrine disorders, and dermatitis. The treatment is the administration

Autores:
Plata Garcia, Clara
Martin Marin, Myriam Lorena
Soler Ramírez, Ángela María
Rojas Martínez, Jorge Armando
Salazar Gonzalez, Maria Paula
Tipo de recurso:
Article of journal
Fecha de publicación:
2020
Institución:
Pontificia Universidad Javeriana
Repositorio:
Repositorio Universidad Javeriana
Idioma:
OAI Identifier:
oai:repository.javeriana.edu.co:10554/60059
Acceso en línea:
https://revistachilenadepediatria.cl/index.php/rchped/article/view/1467
http://hdl.handle.net/10554/60059
https://doi.org/10.32641/rchped.v91i4.1467
Palabra clave:
Ipex Syndrome
Foxp3
Autoimmune Enteropathy
Diarrhea
Rights
License
Atribución-NoComercial 4.0 Internacional
id JAVERIANA2_1387ecb0778a529f789334af2e8f56b5
oai_identifier_str oai:repository.javeriana.edu.co:10554/60059
network_acronym_str JAVERIANA2
network_name_str Repositorio Universidad Javeriana
repository_id_str
spelling Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Plata Garcia, ClaraMartin Marin, Myriam LorenaSoler Ramírez, Ángela MaríaRojas Martínez, Jorge ArmandoSalazar Gonzalez, Maria PaulaPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaPontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San IgnacioPlata García, Clara EugeniaSoler Ramirez, Angela MariaRojas Martinez, Jorge Armando2022-05-31T17:18:22Z2022-05-31T17:18:22Z2020https://revistachilenadepediatria.cl/index.php/rchped/article/view/14670370-4106http://hdl.handle.net/10554/60059https://doi.org/10.32641/rchped.v91i4.1467instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coIntroduction: The IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endocrine disorders, and dermatitis. The treatment is the administrationQ3Revista Internacional - IndexadaBSIPDFapplication/pdfIpex SyndromeFoxp3Autoimmune EnteropathyDiarrheaNew mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndromeArtículo de revistahttp://purl.org/coar/resource_type/c_6501584590Revista Chilena de Pediatria-Chile914ORIGINALa2783.pdfapplication/pdf1325791http://repository.javeriana.edu.co/bitstream/10554/60059/1/a2783.pdf2839b57bfe871bfd3a1ef3a4dc0e3c73MD51open accessTHUMBNAILa2783.pdf.jpga2783.pdf.jpgIM Thumbnailimage/jpeg11304http://repository.javeriana.edu.co/bitstream/10554/60059/2/a2783.pdf.jpg80ccf4a5873d5fbed4f99d0e0656732eMD52open access10554/60059oai:repository.javeriana.edu.co:10554/600592022-06-17 03:05:44.18Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.co
dc.title.none.fl_str_mv New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndrome
title New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndrome
spellingShingle New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndrome
Ipex Syndrome
Foxp3
Autoimmune Enteropathy
Diarrhea
title_short New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndrome
title_full New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndrome
title_fullStr New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndrome
title_full_unstemmed New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndrome
title_sort New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndrome
dc.creator.fl_str_mv Plata Garcia, Clara
Martin Marin, Myriam Lorena
Soler Ramírez, Ángela María
Rojas Martínez, Jorge Armando
Salazar Gonzalez, Maria Paula
dc.contributor.author.none.fl_str_mv Plata Garcia, Clara
Martin Marin, Myriam Lorena
Soler Ramírez, Ángela María
Rojas Martínez, Jorge Armando
Salazar Gonzalez, Maria Paula
dc.contributor.corporatename.none.fl_str_mv Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
dc.contributor.corporatename.spa.fl_str_mv Pontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San Ignacio
dc.contributor.javerianateacher.none.fl_str_mv Plata García, Clara Eugenia
Soler Ramirez, Angela Maria
Rojas Martinez, Jorge Armando
dc.subject.spa.fl_str_mv Ipex Syndrome
Foxp3
Autoimmune Enteropathy
Diarrhea
topic Ipex Syndrome
Foxp3
Autoimmune Enteropathy
Diarrhea
description Introduction: The IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endocrine disorders, and dermatitis. The treatment is the administration
publishDate 2020
dc.date.created.none.fl_str_mv 2020
dc.date.accessioned.none.fl_str_mv 2022-05-31T17:18:22Z
dc.date.available.none.fl_str_mv 2022-05-31T17:18:22Z
dc.type.local.spa.fl_str_mv Artículo de revista
dc.type.coar.spa.fl_str_mv http://purl.org/coar/resource_type/c_6501
format http://purl.org/coar/resource_type/c_6501
dc.identifier.spa.fl_str_mv https://revistachilenadepediatria.cl/index.php/rchped/article/view/1467
dc.identifier.issn.spa.fl_str_mv 0370-4106
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10554/60059
dc.identifier.doi.spa.fl_str_mv https://doi.org/10.32641/rchped.v91i4.1467
dc.identifier.instname.spa.fl_str_mv instname:Pontificia Universidad Javeriana
dc.identifier.reponame.spa.fl_str_mv reponame:Repositorio Institucional - Pontificia Universidad Javeriana
dc.identifier.repourl.spa.fl_str_mv repourl:https://repository.javeriana.edu.co
url https://revistachilenadepediatria.cl/index.php/rchped/article/view/1467
http://hdl.handle.net/10554/60059
https://doi.org/10.32641/rchped.v91i4.1467
identifier_str_mv 0370-4106
instname:Pontificia Universidad Javeriana
reponame:Repositorio Institucional - Pontificia Universidad Javeriana
repourl:https://repository.javeriana.edu.co
dc.relation.citationstartpage.spa.fl_str_mv 584
dc.relation.citationendpage.spa.fl_str_mv 590
dc.relation.ispartofjournal.spa.fl_str_mv Revista Chilena de Pediatria-Chile
dc.relation.citationvolume.spa.fl_str_mv 91
dc.relation.citationissue.spa.fl_str_mv 4
dc.rights.licence.*.fl_str_mv Atribución-NoComercial 4.0 Internacional
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc/4.0/
dc.rights.coar.spa.fl_str_mv http://purl.org/coar/access_right/c_abf2
rights_invalid_str_mv Atribución-NoComercial 4.0 Internacional
http://creativecommons.org/licenses/by-nc/4.0/
http://purl.org/coar/access_right/c_abf2
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institution Pontificia Universidad Javeriana
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repository.name.fl_str_mv Repositorio Institucional - Pontificia Universidad Javeriana
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